B Wissinger

Summary

Country: Germany

Publications

  1. pmc Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
    Christina F Chakarova
    Institute of Ophthalmology, University College London, London, UK
    Am J Hum Genet 81:1098-103. 2007
  2. doi request reprint Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Invest Ophthalmol Vis Sci 49:751-7. 2008
  3. pmc Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    BMC Med Genet 10:91. 2009
  4. pmc Mapping of transcription start sites of human retina expressed genes
    Valeria Roni
    Molecular Genetics Laboratory, University Eye Hospital, Roentgenweg 11, 72076 Tuebingen, Germany
    BMC Genomics 8:42. 2007
  5. pmc Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany
    BMC Genet 11:8. 2010
  6. doi request reprint Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Hum Mutat 32:1398-406. 2011
  7. ncbi request reprint Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy
    B Wissinger
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Biochem Biophys Res Commun 234:511-5. 1997
  8. ncbi request reprint Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
    B Wissinger
    Molekulargenetisches Labor, Forschungsstelle für Experimentelle Ophthalmologie, Universitäts Augenklinik Tübingen, Abteilung II, Auf der Morgenstelle 15, Tubingen, D 72076, Germany
    Genomics 51:325-31. 1998
  9. pmc CNGA3 mutations in hereditary cone photoreceptor disorders
    B Wissinger
    Molekulargenetisches Labor, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Tubingen, Germany
    Am J Hum Genet 69:722-37. 2001
  10. ncbi request reprint Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000

Detail Information

Publications78

  1. pmc Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
    Christina F Chakarova
    Institute of Ophthalmology, University College London, London, UK
    Am J Hum Genet 81:1098-103. 2007
    ....
  2. doi request reprint Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Invest Ophthalmol Vis Sci 49:751-7. 2008
    ..Mutations in PDE6H and in KCNV2 have been described in CDSRR. A combined clinical and genetic study was conducted in a cohort of patients with CDSRR, to substantiate these prior..
  3. pmc Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    BMC Med Genet 10:91. 2009
    ..Instead, multigenic inheritance is proposed for the majority of cases. The present study tested common sequence variants in candidate genes for association with normal tension glaucoma in the German population...
  4. pmc Mapping of transcription start sites of human retina expressed genes
    Valeria Roni
    Molecular Genetics Laboratory, University Eye Hospital, Roentgenweg 11, 72076 Tuebingen, Germany
    BMC Genomics 8:42. 2007
    ..While genome wide experimental and bioinformatic approaches are improving our knowledge of TSSs, they lack information concerning genes expressed in a restricted manner or at very low levels, such as tissue specific genes...
  5. pmc Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany
    BMC Genet 11:8. 2010
    ....
  6. doi request reprint Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
    Bernd Wissinger
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tübingen, Germany
    Hum Mutat 32:1398-406. 2011
    ..1 using yeast two-hybrid technology. We found that these mutations dramatically reduce or abolish this interaction suggesting a lack of assembly of heteromeric Kv channels as one underlying pathomechanism of CDSRR...
  7. ncbi request reprint Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy
    B Wissinger
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Biochem Biophys Res Commun 234:511-5. 1997
    ..None of 170 analyzed control subjects carried this mutation. These findings provide evidence that several allelic ND6 gene mutations may be involved in Lebers hereditary optic neuropathy...
  8. ncbi request reprint Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11
    B Wissinger
    Molekulargenetisches Labor, Forschungsstelle für Experimentelle Ophthalmologie, Universitäts Augenklinik Tübingen, Abteilung II, Auf der Morgenstelle 15, Tubingen, D 72076, Germany
    Genomics 51:325-31. 1998
    ..These data indicate that the CNGA3 gene maps within the critical interval of the ACHM2 locus for rod monochromacy and thus is a candidate gene for this disease...
  9. pmc CNGA3 mutations in hereditary cone photoreceptor disorders
    B Wissinger
    Molekulargenetisches Labor, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Tubingen, Germany
    Am J Hum Genet 69:722-37. 2001
    ....
  10. ncbi request reprint Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000
    ..The 1148delC mutation was identified recurrently in several families, and in total was present on 11 of 22 disease chromosomes segregating in our families...
  11. ncbi request reprint OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
    U E Pesch
    , Auf der Morgenstelle 15, , Germany
    Hum Mol Genet 10:1359-68. 2001
    ..Clinical examination revealed considerable variability in disease expression among patients carrying OPA1 mutations and no strict correlation with either the position or the type of mutation...
  12. ncbi request reprint Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders
    K Pesch
    Molekulargenetisches Labor, , , Germany
    Int J Mol Med 8:53-8. 2001
    ..29 cM. We found that a precise model to describe mutations at loci that erroneously break up linkage is highly required, and that the case population must match the respective disease model...
  13. ncbi request reprint Clinical and genetic features of Hungarian achromatopsia patients
    Balazs Varsanyi
    Molecular Genetics Laboratory, University Eye Hospital, University of Tubingen, Tubingen, Germany
    Mol Vis 11:996-1001. 2005
    ..To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients...
  14. ncbi request reprint Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene
    B Leo Kottler
    , Abteilung II, , Germany
    Ger J Ophthalmol 5:233-40. 1996
    ..That the new mutation at np 14498 is found within this highly conserved region and was not present in any controls implies that this mutation is responsible for LHON in this family...
  15. ncbi request reprint Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy
    F K Jacobi
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Invest Ophthalmol Vis Sci 42:1208-14. 2001
    ....
  16. ncbi request reprint Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    S Kohl
    Molekulargenetisches Labor, Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts Augenklinik Tübingen, Germany
    Nat Genet 19:257-9. 1998
    ....
  17. ncbi request reprint The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
    ..Future functional analysis of nyctalopin might therefore give insight into the fine-regulation of cell-cell contacts in the retina...
  18. ncbi request reprint Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity
    C M Pusch
    Molecular Genetics Laboratory, University Eye Hospital Tubingen, Auf der Morganstelle 15, 72076 Tubingen, Germany
    Int J Mol Med 7:155-61. 2001
    ..Subsequent mutation analyses in CSNB1 patients revealed no pathogenic sequence alterations in DFFRX and CASK genes, but retain candidates for other diseases mapping to that region...
  19. pmc A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa
    K Dietrich
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, 72076 Tubingen, Germany
    Br J Ophthalmol 86:328-32. 2002
    ..Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene...
  20. ncbi request reprint Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(exo-) DNA polymerase and RFLP analysis
    F K Jacobi
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, 72076 Tubingen, Germany
    Mutat Res 478:141-51. 2001
    ....
  21. ncbi request reprint Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
    D Besch
    Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitats Augenklinik, Schleichstrasse 12, D 72076 Tubingen, Germany
    Graefes Arch Clin Exp Ophthalmol 237:745-52. 1999
    ..We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene...
  22. ncbi request reprint A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy
    Marcel V Alavi
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Brain 130:1029-42. 2007
    ..Mitochondria in these axons showed disorganized cristae structures. All these defects recapitulate crucial features of adOA in humans and therefore document the validity and importance of this model for future research...
  23. doi request reprint Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
    N Fuhrmann
    Molecular Genetics Laboratory, Centre for Ophthalmology, Röntgenweg 11, Tubingen, Germany
    J Med Genet 46:136-44. 2009
    ..We therefore hypothesised that larger deletions or duplications that remained undetected in previous screening approaches may substantially contribute to the prevalence of OPA1 mutations in ADOA...
  24. doi request reprint Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy
    Peter Heiduschka
    Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tubingen, Tubingen, Germany
    Invest Ophthalmol Vis Sci 51:1424-31. 2010
    ..The main disease-causing gene is OPA1. Here, we examine a mouse carrying a pathogenic mutation in Opa1 by electrophysiological measurements and assess the fate of RGCs...
  25. ncbi request reprint Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors
    B Wissinger
    Molekulargenetisches Labor, Universitäts Augenklinik Abteilung II, Tubingen, Germany
    Eur J Neurosci 9:2512-21. 1997
    ..RT-PCR analysis gave no evidence for alternatively spliced transcripts...
  26. doi request reprint Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration
    Veronique B D Kitiratschky
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
    Invest Ophthalmol Vis Sci 49:5015-23. 2008
    ..The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders...
  27. ncbi request reprint Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
    M W Seeliger
    University Eye Hospital, Department II, Tubingen, Germany
    Invest Ophthalmol Vis Sci 40:3-11. 1999
    ..To describe the phenotype caused by a retinol deficiency in a family with compound heterozygous missense mutations (Ile41Asn and Gly75Asp) in the gene for serum retinol binding protein (RBP)...
  28. ncbi request reprint OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina
    Ulrike E A Pesch
    Laboratory of Molecular Genetics, University Eye Hospital, Tubingen, Germany
    Invest Ophthalmol Vis Sci 45:4217-25. 2004
    ..In this study the OPA1 gene and its protein were localized in the rat and mouse retina, and its rat orthologue, rOpa1, was identified...
  29. doi request reprint A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly
    N Weisschuh
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany
    Clin Genet 74:476-80. 2008
    ..In this pedigree, all affected family members were diagnosed with ARS except for one who shows bilateral Peters' anomaly. Our findings support the role of FOXC1 mutations in the spectrum of ASD...
  30. ncbi request reprint Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs
    H P Scholl
    Laboratories of Electrophysiology, Department of Experimental Ophthalmology, University Eye Hospital Tubingen, Germany
    Curr Eye Res 22:221-8. 2001
    ..To determine the L- and M-cone driven ERG responses in a male patient with macular dystrophy and a protan phenotype...
  31. ncbi request reprint Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene
    H P Scholl
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital Tubingen, Germany
    Invest Ophthalmol Vis Sci 42:2728-36. 2001
    ..To study the slow and fast rod signals of the scotopic 15-Hz flicker ERG in patients carrying mutations in the NYX gene, which has been recently identified as the cause of the complete form of congenital stationary night blindness, CSNB1...
  32. pmc Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa
    A Schuster
    University Eye Hospital, Department of Neuroophthalmology, Schleichstr 12 16, D 72076 Tuebingen, Germany
    Br J Ophthalmol 89:1258-64. 2005
    ..To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype...
  33. doi request reprint Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice
    K Schaeferhoff
    Microarray Facility, Department of Medical Genetics, University of Tuebingen, Calwerstr 7, 72076, Tuebingen, Germany
    Cell Mol Life Sci 67:3173-86. 2010
    ..We postulate that STAT3-related pathways are induced in cpfl1 cone photoreceptors to counteract degeneration...
  34. ncbi request reprint Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
    Simone Schimpf
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Hum Genet 118:767-71. 2006
    ..Our results show that cDNA analysis is of prime importance for the full evaluation of the effect of putative splicing mutations in the OPA1 gene...
  35. doi request reprint In vivo analysis of cone survival in mice
    Susanne C Beck
    Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
    Invest Ophthalmol Vis Sci 51:493-7. 2010
    ....
  36. pmc Variations in the WDR36 gene in German patients with normal tension glaucoma
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Mol Vis 13:724-9. 2007
    ..To determine the prevalence of WDR36 sequence variants in a cohort of German patients with normal tension glaucoma...
  37. ncbi request reprint Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, Tubingen, Germany
    Invest Ophthalmol Vis Sci 47:3846-52. 2006
    ..To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations...
  38. ncbi request reprint Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, University of Tuebingen, Tuebingen, Germany
    Mol Vis 11:284-7. 2005
    ..To determine the prevalence of optineurin (OPTN) and myocilin (MYOC) sequence variants in a cohort of German patients with normal tension glaucoma...
  39. ncbi request reprint OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain
    Stefanie Bette
    Molecular Genetics Laboratory, University Eye Hospital, Tubingen, Germany
    Acta Neuropathol 109:393-9. 2005
    ....
  40. doi request reprint Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C)
    Katja Koeppen
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Eur J Neurosci 27:2391-401. 2008
    ..Co-expression of A3(R427C) with the B3 subunit compensated for most of these aberrant properties, apart from the reduced cGMP maximum currents...
  41. doi request reprint Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies
    M Dominik Fischer
    University of Tuebingen, Schleichstr 12 16, Tuebingen, Germany
    Adv Exp Med Biol 664:593-9. 2010
    ..We performed a comprehensive in vivo assessment of retinal morphology and function in cpfl1 (cone photoreceptor function loss 1) mice to better define the disease process in this model of cone dystrophies...
  42. doi request reprint A clinical and molecular genetic study of German patients with primary congenital glaucoma
    Nicole Weisschuh
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Am J Ophthalmol 147:744-53. 2009
    ..To estimate an accurate incidence rate for CYP1B1 mutations in German patients with primary congenital glaucoma (PCG)...
  43. ncbi request reprint Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons
    Simone Schimpf
    Molecular Genetics Laboratory, University Eye Hospital, Tuebingen, Germany
    Hum Mutat 29:106-12. 2008
    ..Our results emphasize the value of cDNA analysis in the characterization of OPA1 mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in OPA1-associated adOA...
  44. ncbi request reprint CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
    ..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...
  45. ncbi request reprint Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach
    Nicole Weisschuh
    Molecular Genetics Laboratory, University Eye Hospital, D 72076 Tuebingen, Germany
    Exp Eye Res 85:450-61. 2007
    ....
  46. doi request reprint Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia
    Peggy Reuter
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Hum Mutat 29:1228-36. 2008
    ..In addition, this study presents the positive effect of reduced cell culture temperature on surface expression and functional performance of mutant CNG channels with protein folding or trafficking defects...
  47. doi request reprint cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina
    Dragana Trifunovic
    Division of Experimental Ophthalmology, Institute for Ophthalmic Research, University of Tubingen, Tubingen, 72076 Germany
    J Comp Neurol 518:3604-17. 2010
    ..This raises the possibility that equivalent neuroprotective strategies may be used to prevent both rod and cone photoreceptor degeneration...
  48. ncbi request reprint Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina
    Katrin Pesch
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Germany
    Invest Ophthalmol Vis Sci 44:2260-6. 2003
    ..This study describes the isolation and molecular characterization of the mouse orthologue Nyx and its expression pattern in the retina...
  49. doi request reprint Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma
    Christiane Wolf
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University, Tuebingen, Germany
    J Glaucoma 19:136-41. 2010
    ..To evaluate the association between lysyl-oxidase-like 1 (LOXL1) gene polymorphisms and exfoliation glaucoma, pigmentary glaucoma and normal tension glaucoma in a case-control cohort of German patients...
  50. doi request reprint Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel
    Katja Koeppen
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Tuebingen, Germany
    Hum Mutat 31:830-9. 2010
    ....
  51. doi request reprint Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy
    Marcel V Alavi
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Germany
    Exp Neurol 220:404-9. 2009
    ..In particular we found deficits in both neuromuscular and metabolic function. We therefore want to encourage clinicians to be vigilant about to extra-ocular manifestations in ADOA patients...
  52. pmc ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
    Veronique B D Kitiratschky
    Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
    Eur J Hum Genet 16:812-9. 2008
    ....
  53. doi request reprint Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase
    Veronique B D Kitiratschky
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
    Hum Mutat 30:E782-96. 2009
    ....
  54. pmc Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Am J Hum Genet 71:422-5. 2002
    ..Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia...
  55. ncbi request reprint OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear
    Stefanie Bette
    Molecular Genetics Laboratory, University Eye Hospital, Röntgenweg 11, 72076, Tubingen, Germany
    Histochem Cell Biol 128:421-30. 2007
    ..The data suggest that defects in OPA1 cause hearing disorders due to a progressing metabolic disturbance of hair and ganglion cells in the inner ear...
  56. ncbi request reprint Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina
    Krisztina Wutz
    Abteilung Medizinische Genetik der LMU, Munchen, Germany
    Eur J Hum Genet 10:449-56. 2002
    ..Such a distribution points to the central role of calcium regulation in the interaction of retinal cells that mediate signal transmission...
  57. ncbi request reprint Molecular basis of an inherited form of incomplete achromatopsia
    Dimitri Tränkner
    Institut für Biologische Informationsverarbeitung, Forschungszentrum Julich, 52425 Julich, Germany
    J Neurosci 24:138-47. 2004
    ..We argue that these alterations are responsible for the perturbations in light sensitivity and synaptic transmission...
  58. ncbi request reprint Clinical features of achromatopsia in Swedish patients with defined genotypes
    Louise Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 23:109-20. 2002
    ..To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes...
  59. ncbi request reprint Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate
    Louise M Downey
    Molecular Medicine Unit, CSB, St James s University Hospital, Leeds University, Leeds LS9 7TF UK
    Eur J Hum Genet 10:865-9. 2002
    ..It remains to be established whether this pedigree is segregating two closely linked mutations causing disparate phenotypes or whether a single defect is causing pathology in both teeth and eyes...
  60. ncbi request reprint X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
    Ingrid Bader
    Institute of Human Genetics, National Research Center for Environment and Health GSF, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 44:1458-63. 2003
    ..The frequency of RPGR mutations was assessed in families with definite X-linked recessive disease (xlRP), and a strategy for analyzing the highly repetitive mutational hot spot in exon ORF15 is provided...
  61. doi request reprint OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
    Claudia Zanna
    Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Via Irnerio 42, 40126 Bologna, Italy
    Brain 131:352-67. 2008
    ..The results disclose a novel link between OPA1, apoptosis inducing factor and the respiratory complexes that may shed some light on the pathogenic mechanism of DOA...
  62. ncbi request reprint Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
    Andreas R Janecke
    Institut fur Medizinische Biologie und Humangenetik, Medizinische Universitat Innsbruck, Innsbruck, Austria
    Nat Genet 36:850-4. 2004
    ..Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells...
  63. ncbi request reprint Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome
    Alan F Wright
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Hum Mutat 24:439. 2004
    ....
  64. ncbi request reprint Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster
    Ulrich Kellner
    Department of Ophthalmology Campus Benjamin Franklin, Charite Universitatsmedizin, Berlin, Germany
    Graefes Arch Clin Exp Ophthalmol 242:729-35. 2004
    ..X-linked blue cone monochromatism (BCM) has to be differentiated from x-linked cone dystrophy and autosomal recessive rod monochromatism...
  65. ncbi request reprint Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
    Raffaele Lodi
    Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy
    Ann Neurol 56:719-23. 2004
    ..Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA...
  66. ncbi request reprint Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
    Invest Ophthalmol Vis Sci 45:4256-62. 2004
    ....
  67. ncbi request reprint Morphology and functional characteristics in adult vitelliform macular dystrophy
    Agnes B Renner
    Augenklinik, Campus Benjamin Franklin, Charite Universitatsmedizin Berlin, Berlin, Germany
    Retina 24:929-39. 2004
    ..Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD)...
  68. ncbi request reprint Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
    José A J M van den Hurk
    Department of Human Genetics, University Medical Center Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Hum Genet 113:268-75. 2003
    ..Finally, in an affected male who did not have a mutation in any of the CHM exons or their splice sites, the deletion of a complete exon from the CHM mRNA was observed...
  69. ncbi request reprint Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy
    Sharareh Dadgar
    Exp Eye Res 83:702-6. 2006
    ..Based on this analysis, we propose a mechanism which explains the gradual decline of vision in ADOA patients with OPA1 mutations at position 438...
  70. pmc Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Hum Genet 79:657-67. 2006
    ..We also show that these mutations reduce the transcript levels to 30%-40% of those in controls. This suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients...
  71. ncbi request reprint OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
    Patrizia Amati-Bonneau
    Département de Biochimie et Génétique, Centre Hospitalier Universitaire d Angers, Angers, France
    Brain 131:338-51. 2008
    ..Our results show that certain OPA1 mutations exert a dominant negative effect responsible for multi-systemic disease, closely related to classical mitochondrial cytopathies, by a mechanism involving mtDNA instability...
  72. pmc Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy
    Katharina Agnes Wycisk
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Am J Hum Genet 79:973-7. 2006
    ..Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy...
  73. ncbi request reprint CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
    Naheed Wali Khan
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA
    Invest Ophthalmol Vis Sci 48:3864-71. 2007
    ..The clinical physiology and phenotype of three affected sisters and three carriers were evaluated in a family with a homozygous CNGB3 mutation and an unrelated male harboring both CNGB3 and CNGA3 mutations...
  74. ncbi request reprint The phenotype of early-onset retinal degeneration in persons with RDH12 mutations
    Andreas Schuster
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12 16, D 72076 Tubingen, Germany
    Invest Ophthalmol Vis Sci 48:1824-31. 2007
    ..To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells...
  75. ncbi request reprint Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
    Hum Mol Genet 14:3865-75. 2005
    ..Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region...
  76. ncbi request reprint Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension
    Nikola Jeck
    Department of Pediatrics, University of Marburg, Germany
    Hypertension 43:1175-81. 2004
    ..In conclusion, the mutation ClC-Kb(T481S) of the renal epithelial Cl- channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo...
  77. ncbi request reprint Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
    Zhenglin Yang
    Department of Ophthalmology and Visual Science, University of Utah Health Science Center, Salt Lake City 84112, USA
    Hum Mol Genet 14:255-65. 2005
    ..The importance of a functional CA4 for survival of photoreceptors implies that CA inhibitors, which are widely used as medications, particularly in the treatment of glaucoma, may have long-term adverse effects on vision...
  78. pmc Development of a genotyping microarray for Usher syndrome
    Frans P M Cremers
    Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 44:153-60. 2007
    ..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons...